Chinese name: genetic counseling MBTH: brief introduction of GEIC counseling, genetic counselor, what is human genetic disease, steps and objects of genetic counseling, procedures of genetic counseling, and brief introduction of genetic counseling. According to the definition of the Genetic Counseling Branch of the Chinese Genetic Society, it refers to the combination of human genome technology and human genetic knowledge to provide patients with genetic counseling, genetic diagnosis, genetic disease treatment and other related medical services. The services of genetic counseling mainly include the treatment of monogenic and polygenic genetic diseases, prenatal diagnosis, marriage guidance, pregnancy, childbirth and baby care, the danger of consanguineous marriage, the influence of radioactivity on heredity, paternity test, etc. Genetic counseling by genetic counselors is an essential part of gene sequencing to clinical application, and genetic counselors play a core role in it. Genetic counselors can promote advanced technology to the public in an easy-to-understand way, and at the same time provide suggestions and related solutions for genetic problems encountered by the general public, so that advanced technology can be quickly and accurately transformed into clinical applications. Therefore, in order to protect the health of the whole people and reduce birth defects, genetic counseling is imperative, and genetic counselors are essential. In the United States, genetic counseling is a medical practitioner with a master's degree or a doctor's degree, specializing in genetic theory and clinical practice. It is a golden collar profession with a history of more than 30 years. Genetic counselors can not only interpret the mysteries of the human body, but also accumulate wealth. However, due to historical reasons, genetic counseling has not been paid attention to in China in the past. The lack of genetic counseling institutions and professional genetic counselors and the public's insufficient understanding of genetic counseling have seriously restricted the application and popularization of advanced technologies such as gene sequencing in China. Professor Lin He, an academician of China Academy of Sciences, a famous genetic biologist and president of Bio-X Research Institute of Shanghai Jiaotong University, submitted the Proposal to Fill the Professional Blank of Genetic Consultants in China at the 20 16 Chinese People's Political Consultative Conference Conference. In the same year, the Center for Capacity Building and Continuing Education of the National Health and Family Planning Commission set up an expert group of the Committee of Clinical Genetics Experts to carry out professional training of genetic counseling skills and abilities, strengthen exchanges and cooperation with North America, and carry out distance training to further promote the specialization of genetic counselors in China. What is human genetic disease? Diseases caused by gene defects in the next generation genome due to the influence of environment or fertilized eggs or maternal inheritance are called genetic diseases. Close relatives or related couples can also give birth to children with genetic diseases. There are three kinds of genetic diseases, thousands of them. There are monogenic, polygenic and chromosomal diseases. The questions asked by the inquirers in genetic counseling are as follows: (1) One of the parents or their family members suffers from genetic diseases or congenital malformations. What is the probability that a child will be born with this disease? (2) What is the probability that a child who has had a genetic disease will get the same disease if he is born again? (3) Why are children born with genetic diseases when their parents are normal? How to treat and prognosis? (4) Will pregnant women's exposure to radiation or certain chemicals affect the healthy development of the fetus? (5) Can people with genetic diseases get married? Are their children necessarily sick? (6) Can close relatives get married? (7) Can some deformities be inherited? (8) Prevention and treatment of genetic diseases. Steps The steps of genetic counseling are: (1) Make a correct diagnosis of the disease and determine whether it is a single gene or a polygene disease. The main methods to determine genetic diseases are family investigation and pedigree analysis. Combined with clinical characteristics, with the help of gene diagnosis, chromosome, sex chromosome analysis and biochemical analysis, a correct diagnosis can be made. If it is determined to be a genetic disease, it is necessary to further analyze whether the pathogenic gene is a new mutation or inherited by parents, which is of great significance to predict the risk rate. (2) Human genetic diseases can be roughly divided into three categories: monogenic genetic diseases, polygenic genetic diseases and chromosomal diseases (see genetic diseases). (3) Calculate the risk rate of disease recurrence. According to the degree of risk, human genetic diseases can be divided into three categories: one is the general risk rate, which refers to diseases mainly caused by environmental factors. The second category is mild risk rate, which refers to polygenic genetic diseases, which are caused by the interaction of genetic factors and environmental factors. The third category belongs to high risk rate. All monogenic genetic diseases and their parents are carriers of balanced translocation of chromosomes, and the risk of recurrence is high. (4) Before deciding to terminate pregnancy or carry out treatment, put forward countermeasures and suggestions to patients or their families, such as stopping childbearing, terminating pregnancy or making prenatal diagnosis. According to the notice of the Ministry of Health on printing and distributing the relevant supporting documents of the Measures for the Administration of Prenatal Diagnosis Technology, the common genetic counseling objects are: unexplained mental retardation, children with schizophrenia or congenital malformation who can't take care of themselves, independent parents or stillbirths, and stillborn couples who have repeated abortions for unknown reasons. , couples who have been infertile for many years after marriage, pregnant women over the age of 35 who have been exposed to adverse environmental factors for a long time, young men and women who have been exposed to adverse environmental factors during pregnancy, and pregnant women with certain chronic diseases who have been found abnormal through routine examination or screening for common genetic diseases. General genetic counseling goes through the following procedures: the information of clinical analysis includes clinical analysis, chief complaint, physical examination, clinical experience, medical history, birth history (abortion history, stillbirth history, premature birth history), marriage history (marriage age, spouse's health status), environmental factors, special chemical exposure and special reaction, age, living area and nationality. According to the collected information, the genetic diseases are determined, and corresponding laboratory tests, such as chromosome analysis and gene diagnosis, are done. Prenatal diagnosis is based on clinical analysis and clinical experience. Take appropriate prenatal diagnosis methods. The main methods of collecting specimens in clinic are chorionic puncture, amniocentesis and umbilical vein puncture. Prenatal diagnosis methods include ultrasonic diagnosis, biochemical immunity, cytogenetic diagnosis and molecular genetic diagnosis.